The human genome consists of more than 6 billion letters. Each person has a unique configuration of A, C, G, and T – the molecular building blocks that make up DNA. Determining the sequence of all these letters used to require a huge amount of money, time, and effort. Thousands of researchers worked on the Human Genome project for 13 years. Its value is $2.7 billion.
In 1990, this project ushered in the era of genomics helping scientists unravel the genetic factors of cancer and many hereditary diseases, as well as has stimulated the development of home DNA tests. Next, researchers began to sequence more genomes: animals, plants, bacteria, and viruses. Ten years ago, sequencing a human genome cost researchers about $10,000. A few years ago, that price dropped to $1,000. Today, it’s about $600. And from now on, sequencing will become even cheaper.
At the branch event in San Diego, a genomics giant Illumina company introduced what it calls its fastest and most efficient sequencing machines, the NovaSeq X series.
The company, which controls about 80% of the global DNA sequencing market, believes that its new technology will reduce the cost to $200 per human genome while providing twice the reading speed.
Francis deSouza, CEO of Illumina says that a more powerful model will be able to sequence 20,000 genomes per year; the company’s current equipment can sequence about 7,500 genomes. Illumina will start selling the new instruments today and ship them next year.
“As we look to the next decade, we believe we’re entering the era of genomic medicine going mainstream. To do that requires the next generation of sequencers,” deSouza says. “We need price points to keep coming down to make genomic medicine and genomic tests available much more broadly.”
Sequencing has led to genetically targeted drugs, blood tests that can detect cancer in its early stages, and diagnostics for people with rare diseases. We can thank sequencing for vaccines against Covid-19, which scientists began developing in January 2020, as soon as the first sample of the virus’s genome was created.
In research laboratories, this technology has become indispensable for a better understanding of pathogens and human evolution. But in medicine, it is still not used everywhere, which is partially connected to the price. While sequencing costs about $600 for scientists, clinical interpretation and genetic counseling can bring the price to several thousand dollars for patients.
Another reason is that for healthy people, there is insufficient evidence that genome sequencing will be worth the money spent. Now the test is mainly used by people with certain types of cancer or undiagnosed diseases. Although in two recent studies, about 12-15% of healthy people whose genomes were sequenced ended up having a genetic variation that put them at increased risk for a disease that could be cured or prevented, indicating that sequencing could provide early prevention of diseases.